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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CD151-EFCAB4A (FusionGDB2 ID:14425)

Fusion Gene Summary for CD151-EFCAB4A

check button Fusion gene summary
Fusion gene informationFusion gene name: CD151-EFCAB4A
Fusion gene ID: 14425
HgeneTgene
Gene symbol

CD151

EFCAB4A

Gene ID

977

283229

Gene nameCD151 molecule (Raph blood group)calcium release activated channel regulator 2B
SynonymsGP27|MER2|PETA-3|RAPH|SFA1|TSPAN24EFCAB4A
Cytomap

11p15.5

11p15.5

Type of geneprotein-codingprotein-coding
DescriptionCD151 antigenCD151 antigen (Raph blood group)hemidesmosomal tetraspanin CD151membrane glycoprotein SFA-1platelet surface glycoprotein gp27platelet-endothelial cell tetraspan antigen 3platelet-endothelial tetraspan antigen 3tetraspanin-24tspan-24EF-hand calcium-binding domain-containing protein 4ACRAC channel regulator 2BCRAC regulator 2BCa2+ release-activated Ca2+ (CRAC) channel regulator 2BEF-hand calcium binding domain 4Acalcium release-activated calcium channel regulator 2B
Modification date2020032720200313
UniProtAcc

P48509

.
Ensembl transtripts involved in fusion geneENST00000397420, ENST00000322008, 
ENST00000397421, ENST00000528011, 
ENST00000525181, 		ENST00000528542, 
ENST00000450448, ENST00000525077, 
Fusion gene scores* DoF score3 X 4 X 2=241 X 1 X 1=1
# samples 41
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(1/1*10)=3.32192809488736
Context

PubMed: CD151 [Title/Abstract] AND EFCAB4A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD151(837354)-EFCAB4A(831224), # samples:2
Anticipated loss of major functional domain due to fusion event.CD151-EFCAB4A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCD151

GO:0030335

positive regulation of cell migration

17716972

HgeneCD151

GO:0044319

wound healing, spreading of cells

17716972

HgeneCD151

GO:0045807

positive regulation of endocytosis

17716972


check buttonFusion gene breakpoints across CD151 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across EFCAB4A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-D8-A27M-01ACD151chr11

837354

+EFCAB4Achr11

831224

+
ChimerDB4BRCATCGA-D8-A27M-01ACD151chr11

837354

-EFCAB4Achr11

831224

+


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Fusion Gene ORF analysis for CD151-EFCAB4A

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000397420ENST00000528542CD151chr11

837354

+EFCAB4Achr11

831224

+
In-frameENST00000397420ENST00000450448CD151chr11

837354

+EFCAB4Achr11

831224

+
Frame-shiftENST00000397420ENST00000525077CD151chr11

837354

+EFCAB4Achr11

831224

+
In-frameENST00000322008ENST00000528542CD151chr11

837354

+EFCAB4Achr11

831224

+
In-frameENST00000322008ENST00000450448CD151chr11

837354

+EFCAB4Achr11

831224

+
Frame-shiftENST00000322008ENST00000525077CD151chr11

837354

+EFCAB4Achr11

831224

+
In-frameENST00000397421ENST00000528542CD151chr11

837354

+EFCAB4Achr11

831224

+
In-frameENST00000397421ENST00000450448CD151chr11

837354

+EFCAB4Achr11

831224

+
Frame-shiftENST00000397421ENST00000525077CD151chr11

837354

+EFCAB4Achr11

831224

+
In-frameENST00000528011ENST00000528542CD151chr11

837354

+EFCAB4Achr11

831224

+
In-frameENST00000528011ENST00000450448CD151chr11

837354

+EFCAB4Achr11

831224

+
Frame-shiftENST00000528011ENST00000525077CD151chr11

837354

+EFCAB4Achr11

831224

+
intron-3CDSENST00000525181ENST00000528542CD151chr11

837354

+EFCAB4Achr11

831224

+
intron-3CDSENST00000525181ENST00000450448CD151chr11

837354

+EFCAB4Achr11

831224

+
intron-3CDSENST00000525181ENST00000525077CD151chr11

837354

+EFCAB4Achr11

831224

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CD151-EFCAB4A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CD151chr11837354+EFCAB4Achr11831223+0.0715322350.9284678
CD151chr11837354+EFCAB4Achr11831223+0.0715322350.9284678

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CD151-EFCAB4A


check button Go to

FGviewer for the breakpoints of chr11:837354-chr11:831224

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD151

P48509

.
FUNCTION: Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. {ECO:0000269|PubMed:15265795}.; FUNCTION: (Microbial infection) Plays a role in human papillomavirus 16/HPV-16 endocytosis upon binding to cell surface receptor. {ECO:0000269|PubMed:24553111}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCD151chr11:837354chr11:831224ENST00000322008+691_18152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000322008+6940_57152.0254.0Topological domainExtracellular
HgeneCD151chr11:837354chr11:831224ENST00000322008+6979_91152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000397420+691_18152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000397420+6940_57152.0254.0Topological domainExtracellular
HgeneCD151chr11:837354chr11:831224ENST00000397420+6979_91152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000397421+581_18152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000397421+5840_57152.0254.0Topological domainExtracellular
HgeneCD151chr11:837354chr11:831224ENST00000397421+5879_91152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000322008+6919_39152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000322008+6958_78152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000322008+6992_112152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397420+6919_39152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397420+6958_78152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397420+6992_112152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397421+5819_39152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397421+5858_78152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397421+5892_112152.0254.0TransmembraneHelical
TgeneEFCAB4Achr11:837354chr11:831224ENST0000045044869378_383262.0295.0Compositional biasNote=Cys-rich
TgeneEFCAB4Achr11:837354chr11:831224ENST0000052507769378_383317.6666666666667400.0Compositional biasNote=Cys-rich
TgeneEFCAB4Achr11:837354chr11:831224ENST0000052854269378_383262.0295.0Compositional biasNote=Cys-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCD151chr11:837354chr11:831224ENST00000322008+69113_221152.0254.0Topological domainExtracellular
HgeneCD151chr11:837354chr11:831224ENST00000322008+69243_253152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000397420+69113_221152.0254.0Topological domainExtracellular
HgeneCD151chr11:837354chr11:831224ENST00000397420+69243_253152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000397421+58113_221152.0254.0Topological domainExtracellular
HgeneCD151chr11:837354chr11:831224ENST00000397421+58243_253152.0254.0Topological domainCytoplasmic
HgeneCD151chr11:837354chr11:831224ENST00000322008+69222_242152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397420+69222_242152.0254.0TransmembraneHelical
HgeneCD151chr11:837354chr11:831224ENST00000397421+58222_242152.0254.0TransmembraneHelical
TgeneEFCAB4Achr11:837354chr11:831224ENST0000045044869181_358262.0295.0Coiled coilOntology_term=ECO:0000255
TgeneEFCAB4Achr11:837354chr11:831224ENST0000052507769181_358317.6666666666667400.0Coiled coilOntology_term=ECO:0000255
TgeneEFCAB4Achr11:837354chr11:831224ENST0000052854269181_358262.0295.0Coiled coilOntology_term=ECO:0000255
TgeneEFCAB4Achr11:837354chr11:831224ENST000004504486933_61262.0295.0DomainEF-hand 1
TgeneEFCAB4Achr11:837354chr11:831224ENST000004504486967_95262.0295.0DomainEF-hand 2
TgeneEFCAB4Achr11:837354chr11:831224ENST000005250776933_61317.6666666666667400.0DomainEF-hand 1
TgeneEFCAB4Achr11:837354chr11:831224ENST000005250776967_95317.6666666666667400.0DomainEF-hand 2
TgeneEFCAB4Achr11:837354chr11:831224ENST000005285426933_61262.0295.0DomainEF-hand 1
TgeneEFCAB4Achr11:837354chr11:831224ENST000005285426967_95262.0295.0DomainEF-hand 2


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Fusion Gene Sequence for CD151-EFCAB4A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CD151-EFCAB4A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CD151-EFCAB4A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CD151-EFCAB4A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD151C1836823Nephropathy with Pretibial Epidermolysis Bullosa and Deafness2CTD_human;GENOMICS_ENGLAND;ORPHANET